Von Hippel-Lindau Disease
1 Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden
2 University Medical Center Utrecht, Department for Metabolic and Endocrine Diseases
3 University Medical Center Utrecht, Division Biomedical Genetics
4 University Medical Center Utrecht, Department of Clinical Endocrinology
Hereditary Cancer in Clinical Practice 2005, 3:171-178 doi:10.1186/1897-4287-3-4-171Published: 15 November 2005
A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activity of hypoxia-inducible factor 1-α (HIF1-α). Clinical diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene, which is informative in virtually all VHL families. A patient with (suspicion for) VHL is an indication for genetic counselling and periodical examination.